rs186971044
This variant is located in the IGHMBP2 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout IGHMBP2
This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
View all IGHMBP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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